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RAB3B RAB3B, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 5865, updated on 11-Apr-2024

Summary

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Official Symbol
RAB3Bprovided by HGNC
Official Full Name
RAB3B, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:9778
See related
Ensembl:ENSG00000169213 MIM:179510; AllianceGenome:HGNC:9778
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Enables GDP binding activity; GTPase activity; and myosin V binding activity. Involved in several processes, including positive regulation of dopamine uptake involved in synaptic transmission; regulation of synaptic vesicle cycle; and regulation of vesicle size. Located in perinuclear region of cytoplasm and vesicle. Is active in dopaminergic synapse. Is anchored component of synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in prostate (RPKM 6.0), brain (RPKM 3.4) and 11 other tissues See more
Orthologs
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Genomic context

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Location:
1p32.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (51907956..51990700, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (51789104..51872214, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (52373628..52456372, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nardilysin convertase Neighboring gene microRNA 761 Neighboring gene tRNA splicing endonuclease subunit 15 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:52342189-52342720 Neighboring gene Sharpr-MPRA regulatory region 5937 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:52345137-52345690 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:52346444-52346641 Neighboring gene MPRA-validated peak224 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:52362999-52364198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1029 Neighboring gene RNA, 5S ribosomal pseudogene 48 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 883 Neighboring gene ribosomal protein S26 pseudogene 14 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:52470431-52471275 Neighboring gene RNA, 7SL, cytoplasmic 290, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1030 Neighboring gene thioredoxin domain containing 12 Neighboring gene KTI12 chromatin associated homolog

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Elevated expression of RAB3B plays important roles in chemoresistance and metastatic potential of hepatoma cells. Tsunedomi R, et al. BMC Cancer, 2022 Mar 11. PMID 35277124, Free PMC Article
  2. Rab3B immunoexpression in human pituitary adenomas. Rotondo F, et al. Appl Immunohistochem Mol Morphol, 2009 May. PMID 19384079
  3. Distinct roles of Rab3B and Rab13 in the polarized transport of apical, basolateral, and tight junctional membrane proteins to the plasma membrane. Yamamoto Y, et al. Biochem Biophys Res Commun, 2003 Aug 22. PMID 12901864
  4. Expression, localization and functional role of small GTPases of the Rab3 family in insulin-secreting cells. Regazzi R, et al. J Cell Sci, 1996 Sep. PMID 8886977
  5. Expression and polarized targeting of a rab3 isoform in epithelial cells. Weber E, et al. J Cell Biol, 1994 May. PMID 8175882, Free PMC Article

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Long noncoding RNA ENST00000436340 promotes podocyte injury in diabetic kidney disease by facilitating the association of PTBP1 with RAB3B.
    Title: Long noncoding RNA ENST00000436340 promotes podocyte injury in diabetic kidney disease by facilitating the association of PTBP1 with RAB3B.
  2. Elevated expression of RAB3B plays important roles in chemoresistance and metastatic potential of hepatoma cells.
    Title: Elevated expression of RAB3B plays important roles in chemoresistance and metastatic potential of hepatoma cells.
  3. GDP/GTP exchange factor MADD drives activation and recruitment of secretory Rab GTPases to Weibel-Palade bodies.
    Title: GDP/GTP exchange factor MADD drives activation and recruitment of secretory Rab GTPases to Weibel-Palade bodies.
  4. Western blot experiments designed to detect flotillin 2, TMEM256, Rab3B and LAMTOR1 showed that the level of these proteins was higher in urinary exosomes from prostate cancer patients compared to healthy males
    Title: Exosomal proteins as prostate cancer biomarkers in urine: From mass spectrometry discovery to immunoassay-based validation.
  5. The structure of Rab3B:GDP complex was solved to 1.9A resolution and the structural base comparison with other Rab3 members provides a structural basis for the GDP/GTP switch in controlling the activity of small GTPase.
    Title: Crystal structure of inactive form of Rab3B.
  6. These results support an important inter-species difference in regulating insulin exocytosis where RAB3B is the most expressed isoform in human islets.
    Title: In vitro expression of NGN3 identifies RAB3B as the predominant Ras-associated GTP-binding protein 3 family member in human islets.
  7. RAB3B improves dopamine handling and storage capacity at presynaptic terminals, and confers protection to vulnerable DA neurons.
    Title: Functional enhancement and protection of dopaminergic terminals by RAB3B overexpression.
  8. Rab3b/3c-positive recycling vesicles are involved in and may constitute one of the recycling compartments in exogenous antigen cross-presentation.
    Title: The GTPase Rab3b/3c-positive recycling vesicles are involved in cross-presentation in dendritic cells.
  9. these results add new information to the view that Rab3B is involved in the regulation of pituitary hormone secretion.
    Title: Rab3B immunoexpression in human pituitary adenomas.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GDP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables myosin V binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables myosin V binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in antigen processing and presentation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of dopamine uptake involved in synaptic transmission IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein secretion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of synaptic vesicle cycle IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of synaptic vesicle cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of vesicle size IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in dopaminergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in dopaminergic synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular exosome HDA PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in synaptic vesicle membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in synaptic vesicle membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in vesicle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ras-related protein Rab-3B
Names
brain antigen RAB3B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_002867.4 → NP_002858.2  ras-related protein Rab-3B

    See identical proteins and their annotated locations for NP_002858.2

    Status: VALIDATED

    Source sequence(s)
    AL589663, AU119030, BC005035
    Consensus CDS
    CCDS560.1
    UniProtKB/Swiss-Prot
    P20337, Q5VUL2, Q9BSI1
    UniProtKB/TrEMBL
    A0A0A1HAV6, A8K6I8
    Related
    ENSP00000360718.3, ENST00000371655.4
    Conserved Domains (2) summary
    smart00175
    Location:23 → 183
    RAB; Rab subfamily of small GTPases
    cd01865
    Location:22 → 186
    Rab3; Rab GTPase family 3 contains Rab3A, Rab3B, Rab3C and Rab3D

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    51907956..51990700 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001958.2 → XP_016857447.1  ras-related protein Rab-3B isoform X1

    UniProtKB/Swiss-Prot
    P20337, Q5VUL2, Q9BSI1
    UniProtKB/TrEMBL
    A0A0A1HAV6, A8K6I8
    Conserved Domains (2) summary
    smart00175
    Location:23 → 183
    RAB; Rab subfamily of small GTPases
    cd01865
    Location:22 → 186
    Rab3; Rab GTPase family 3 contains Rab3A, Rab3B, Rab3C and Rab3D

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    51789104..51872214 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338003.1 → XP_054193978.1  ras-related protein Rab-3B isoform X1

    UniProtKB/Swiss-Prot
    P20337, Q5VUL2, Q9BSI1
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P20337.2 GenPept UniProtKB/Swiss-Prot:P20337

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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